High-throughput sequencing technologies
JA Reuter, DV Spacek, MP Snyder - Molecular cell, 2015 - cell.com
The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …
diversity, and disease. The path from the first draft sequence to our nascent era of personal …
Settling the score: variant prioritization and Mendelian disease
When investigating Mendelian disease using exome or genome sequencing, distinguishing
disease-causing genetic variants from the multitude of candidate variants is a complex …
disease-causing genetic variants from the multitude of candidate variants is a complex …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …
generation of sequence data, democratizing the ability to compile information on large …
Responsible implementation of expanded carrier screening
This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …
regarding responsible implementation of expanded carrier screening. Carrier screening is …
[HTML][HTML] The International Association for the Study of Lung Cancer global survey on molecular testing in lung cancer
Introduction Access to targeted therapies for lung cancer depends on the accurate
identification of patients' biomarkers through molecular testing. The International Association …
identification of patients' biomarkers through molecular testing. The International Association …
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
LM Amendola, MO Dorschner, PD Robertson… - Genome …, 2015 - genome.cshlp.org
Recommendations for laboratories to report incidental findings from genomic tests have
stimulated interest in such results. In order to investigate the criteria and processes for …
stimulated interest in such results. In order to investigate the criteria and processes for …
[HTML][HTML] Pharmacogenomics: A genetic approach to drug development and therapy
The majority of the well-known pharmacogenomics research used in the medical sciences
contributes to our understanding of medication interactions. It has a significant impact on …
contributes to our understanding of medication interactions. It has a significant impact on …
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications
Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …
the European Society for Human Reproduction and Embryology, have worked together …
Improving diagnostics of rare genetic diseases with NGS approaches
According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …